Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1431102_1431103delinsAG , CM000667.2:g.1431102_1431103delinsAG | GRCh38 |
| NC_000005.9:g.1431217_1431218delinsAG , CM000667.1:g.1431217_1431218delinsAG | GRCh37 |
| NC_000005.8:g.1484217_1484218delinsAG | NCBI36 |
| NG_015885.1:g.19326_19327delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.653+1361_653+1362delinsCT MANE Select | ENSP00000270349.9:n.653+1361_653+1362delinsCT | |
| ENST00000270349.11:c.653+1361_653+1362delinsCT | ENSP00000270349.9:n.653+1361_653+1362delinsCT | |
| NM_001044.4:c.653+1361_653+1362delinsCT | NP_001035.1:n.653+1361_653+1362delinsCT | |
| NM_001044.5:c.653+1361_653+1362delinsCT MANE Select | NP_001035.1:n.653+1361_653+1362delinsCT |